Centre of Research Excellence in Autoinflammatory Diseases
Autoinflammatory diseases are caused by changes in genes that regulate the immune system.
Our collaborative group of researchers, clinicians and patient advocates aim to understand the wide scope of molecular pathways associated with autoinflammatory conditions, to inform development of much needed diagnostic tools and novel therapies.
Autoinflammatory diseases are an important group of rare conditions that exert a heavy burden of clinical care on affected individuals and their families.
Our goal is to advance the basic understanding of inflammatory pathways and the immune system as a whole, providing new insights into human health and disease. A better understanding of these pathways will enable development of new tests and therapies for rare autoinflammatory conditions, improving diagnosis and supporting better disease management for those affected.
While recent advances have led to better treatments, particularly for some specific conditions, there is still a significant gap in how we understand and manage these diseases, especially for rare forms and for children. The Centre of Research Excellence in Autoinflammatory Diseases (CRE-AID) is working to provide the fundamental insights required to drive the critical improvements needed for patients.
Our Vision
A partnership of researchers, clinicians and patient advocates, CRE-AID will pioneer collaborative fundamental research in autoinflammatory diseases – increasing diagnostic yield, enhancing therapeutic choice, and improving patient outcomes.
What are autoinflammatory diseases?
Autoinflammatory diseases, also known as periodic fever syndromes, are a group of rare conditions that are characterised by episodes of symptoms such as fever and inflammation.
These symptoms are the result of an overactive innate immune system, triggered due to changes in genes within the molecular pathways that control our front-line immune response.
Monogenic autoinflammatory diseases are caused a change in a single gene. These genetic changes can be passed down from parents to children, so some families may have multiple members with the same condition.
Examples of monogenic autoinflammatory diseases include:
- Familial Mediterranean Fever (FMF)
- Cryopyrin-associated periodic syndrome (CAPS)
- TNF Receptor-associated periodic syndrome (TRAPS)
- Hyper IgD Syndrome (HIDS)
Other autoinflammatory disorders may be caused by multiple genetic changes or may be influenced by environmental factors.
Effective treatment of autoinflammatory diseases often relies on a genetic diagnosis, to guide the selection of therapeutics that target the specific immune pathway affected in an individual.
With recent advances in genetics, scientists have been able to identify the changes in some of the genes and molecular pathways responsible for many autoinflammatory diseases. This research has enabled the development of genetic tests to help with diagnosis and therapeutic management. However, only some of the genes and immune pathways associated with autoinflammatory diseases have been identified, and the functional impact of most gene variants in known pathways are untested – so for a significant number of patients, the underlying genetic cause of their condition is unknown.
Further, while many excellent therapies for autoinflammatory diseases are established and others are emerging, their application remains limited without better screening tools. Improved screening tools would allow for therapeutic targeting, to ensure the best treatment is available for each patient. CRE-AID aims to fill these knowledge gaps, so we can improve options and outcomes for patients.
Chief Investigators and Program Leads
Professor Seth Masters, CRE director
Centre Head, Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research; Research Group Head, Innate Immune and Autoinflammatory Disease
Professor Kate Schroder, Joint Program Lead, Inflammasomopathies
Inflammasome Lab, The University of Queensland
Professor Michael Rogers, Joint Program Lead, Inflammasomopathies
Laboratory Head, Rogers Lab, The Garvan Institute of Medical Research
Professor Carl Walkley, Joint Program Lead, Interferonopathies
Research Group Head, RNA Biology and Innate Immune Sensing, Hudson Institute of Medical Research and Monash University
Dr Sophia Davidson, Joint Program Lead, Interferonopathies
Research Group Head, Neuroinflammation and Neurodegeneration, Hudson Institute of Medical Research
Dr Najoua Lalaoui, Joint Program Lead, Relopathies
Group Leader, Peter MacCallum Cancer Centre
Professor Shane Grey, Joint Program Lead, Relopathies
Head of School, The University of New South Wales
Associate Professor Paul Gray, Clinical Co-ordination
Joint Head of Immunology and Infectious Diseases, Sydney Children’s Hospital, Randwick
Dr Samar Ojaimi, Clinical Co-ordination
Head, diagnostic immunology laboratory at Monash Health, Monash Health
Ms Karen Raymond, Patient Advocate
Associate Investigators
Ms Sharon Kensell, FMFandAID Australia
Professor Matt Trau, The University of Queensland
Dr Marcia Munoz, The Garvan Institute of Medical Research
Associate Professor Ashley Mansell, Latrobe
Professor Natalie Trevaskis, Monash University
Dr Maria Tanzer, Walter and Eliza Hall Institute of Medical Research
Dr Alberto Pinzon-Charry, Queensland Children’s Hospital
Dr Georgina Tiller, The Royal Children’s Hospital Melbourne
Dr Michael O’Sullivan, Perth Children’s Hospital
Program Personnel
Dr Marianne Mégroz, Project Manager, Hudson Institute of Medical Research
CRE-AID brings together a collaborative team of scientists, whose skills and expertise encompass the complex molecular pathways of the innate immune response that are associated with autoinflammatory conditions.
Our team also includes clinicians and patient advocates, who understand the challenges of identifying and managing this underdiagnosed group of conditions, to support real-world impact and translation of this research.
Research aims
Our program goal is to determine the mechanistic details of the pathways that cause autoinflammatory disease, and translate these findings into improved diagnosis and treatment for patients both nationally – and world-wide. More specifically, our projects aim to:
- Implement novel biomarker detection methodology
- Validate gene variants of unknown significance
- Identify new pathways driving autoinflammation
- Develop more specifically targeted therapies
Research underway
Inflammasomopathies
Interferonopathies
Relopathies
Funding
The Centre of Research Excellence in Autoinflammatory Disease (CRE-AID) is a five-year research program (01/11/2024 until 31/10/2029) funded by the National Health and Medical Research Council (NHMRC) Centres of Research Excellence program.
Collaborators
- Hudson Institute of Medical Research
- WEHI
- University of Queensland
- University of New South Wales
- Garvan Institute of Medical Research
- Monash Health
- Peter MacCallum Cancer Centre
- Sydney Children’s Hospital
- Perth Children’s Hospital
CRE–AID
Marianne Mégroz
Project Manager
Email: marianne.megroz@hudson.org.au
Phone: (03) 8572 2738
Hudson Institute of Medical Research
27-31 Wright Street
Clayton VIC 3168